Genetic Diseases, Inborn: all 423 studies
Page 4 of 5. Open to participants first (148), then studies with results posted, then the rest; newest registration first within each.
- Long Term Extension Study in Patients With Primary HyperoxaluriaActive, not recruitingNCT04042402Phase 3
- Prospective Clinical Assessment Study in Children With Achondroplasia (ACH)CompletedNCT04035811
- The Use of Digital Genetic Assistant (DGA) for Expanded Carrier ScreeningStatus unknownNCT04014114
- The Pilot Study of High-throughput Sequencing in Neonatal Birth DefectsCompletedNCT03984266
- Interest of High-throughput Sequencing of RNAs for the Diagnosis of Heterogeneous Genetic DiseasesStatus unknownNCT03971292
- Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic DisordersCompletedNCT03967743
- Noninvasive Electrocardiographic Imaging for Individuals at Risk for Apparently Idiopathic Ventricular Fibrillation.Status unknownNCT03963271
- Immunome Project Consortium for Autoinflammatory DisordersCompletedNCT03919110
- Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot StudyStatus unknownNCT03918707
- A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)Active, not recruitingNCT03913143Phase 2/3
- Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal HydropsCompletedNCT03911531
- An International Study to Evaluate the Real-world Effectiveness and Usage of Alprolix in Patients With Haemophilia BCompletedNCT03901755
- Genetic and Phenotypic Characteristics of Mitral Valve ProlapseStatus unknownNCT03884426
- Lead-in Study to Collect Prospective Efficacy and Safety Data of Current FVIII Prophylaxis Replacement Therapy in Adult Hemophilia A ParticipantsCompletedNCT03876301
- Method of Genetic Analysis in GenodermatosesStatus unknownNCT03873285Not applicable
- Single Ascending Dose Study in Participants With LCA10Status unknownNCT03872479Phase 1/2
- A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic DiseasesStatus unknownNCT03861741Not applicable
- Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic DisordersCompletedNCT03855631
- Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic DisorderCompletedNCT03829176Not applicable
- Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A GeneCompletedNCT03780257Phase 1/2
- NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC ChildrenCompletedNCT03738098Not applicable
- Whole Genome Sequencing in the Neonatal Intensive Care UnitCompletedNCT03721458
- Implementing Digital Health in a Learning Health SystemCompletedNCT03713333Not applicable
- Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual DisabilitiesStatus unknownNCT03688594Not applicable
- EAP_GS010_single PatientNo longer availableNCT03672968
- Virtual Visits for Results DisclosureWithdrawnNCT03658382Not applicable
- A Safety and Efficacy Study Evaluating CTX001 in Participants With Transfusion-Dependent β-ThalassemiaCompletedNCT03655678Phase 2/3
- Drug-induced Repolarization ECG ChangesStatus unknownNCT03642405
- Role of Amino Acids and Genetic Disorder in Pathogenesis of Heart FailureStatus unknownNCT03590522
- Delineation of Novel Monogenic Disorders in the United Arab Emirates PopulationStatus unknownNCT03589079
- Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene MutationStatus unknownNCT03587155
- A Trial of Metformin in Individuals With Fragile X SyndromeCompletedNCT03479476Phase 2/3
- Diagnostic Odyssey: Whole Genome Sequencing (WGS)Active, not recruitingNCT03458962
- Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome)CompletedNCT03435627
- Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in ChinaStatus unknownNCT03424772
- An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With AchondroplasiaActive, not recruitingNCT03424018Phase 3
- Ensuring Patients' Informed Access to Noninvasive Prenatal TestingCompletedNCT03420274Not applicable
- Central and Peripheral Nervous System Changes as Markers of Disease Progression in Multiple SclerosisCompletedNCT03401307
- Natural History Study of CEP290-Related Retinal DegenerationCompletedNCT03396042
- The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran CareCompletedNCT03380819Not applicable
- Genetic Screening and Assisted Oocyte Activation in Couples with Diminished/aberrant Embryonic Development.CompletedNCT03354013Not applicable
- Evaluating Innovations in Transition From Pediatric to Adult Care - The Transition Navigator TrialCompletedNCT03342495Not applicable
- Kidney Information Network for Disease Research and EducationTerminatedNCT03321604
- REALITY LHON RegistryCompletedNCT03295071
- Phase 1 Study of ELX-02 in Healthy AdultsCompletedNCT03292302Phase 1
- Genetics of Ehlers-Danlos SyndromeCompletedNCT03093493
- Molecular Typing of Community-acquired Pneumonia Based on Multiple-omic Data AnalysisStatus unknownNCT03093220
- Retrospective Study on Clinical Results of Preimplantation Genetic Screening at Different Embryo StageCompletedNCT03065114
- Genomic Sequencing in Patients With HCM Undergoing Septal MyectomyCompletedNCT03043209
- Cohort Description of Younger With AV-blockStatus unknownNCT03024047
- Prospective, Non-interventional Study to Evaluate the Effectiveness of Elocta Compared to Conventional Factor ProductsCompletedNCT02976753
- Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65)CompletedNCT02946879
- Pilot Study of Cardiac MR in Patients With Muscular DystrophyCompletedNCT02921321
- Parental Consanguinity and Family History of Kidney Disease in Turkish Kidney Disease PopulationCompletedNCT02917070
- A Study Comparing the Quality of Life of Patients in the Treatment of Eczema by Pediatric Generalists and SpecialistsCompletedNCT02916888
- Utilizing Free DNA in Embryo Culture for PGTCompletedNCT02884063
- Safety, Tolerability, Pharmacokinetics of ELX-02 in Healthy Adult VolunteersTerminatedNCT02807961Phase 1
- Pediatric Patients With Metabolic or Other Genetic DisordersCompletedNCT02769949
- The Alfred Step Test Exercise Protocol (A-STEP), for Adults With Cystic Fibrosis.CompletedNCT02717650Not applicable
- Uterine Irrigation Method in Infertility Patients Who Require PGDStatus unknownNCT02676479Not applicable
- Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PWCompletedNCT02670694
- Time-Lapse Incubation for Embryo Culture - Morphokinetics and Environmental StabilityStatus unknownNCT02657811Not applicable
- Pharmacological Treatment of a Rare Genetic Disease: N-acetylcysteine in Myopathy Associated Selenoprotein N-related Myopathy (SEPN1-RM)TerminatedNCT02505087Phase 2/3
- An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) PatientsCompletedNCT02429947
- Durban Diabetes Study:A Study of the Epidemiology of Diabetes Mellitus in Urban South Africans of African Descent (DDS)CompletedNCT02416440
- Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life QualityCompletedNCT02380729
- Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical ConditionsStatus unknownNCT02365376
- Non Invasive Prenatal Testing (NIPT) of Single-gene DisordersStatus unknownNCT02339402
- Genomic Sequencing in Acutely Ill NeonatesCompletedNCT02225522Not applicable
- Doxycycline Treatment in Mild Thyroid-Associated OphthalmopathyStatus unknownNCT02203682Phase 2
- Prenatal Microarray Follow-Up StudyCompletedNCT02160938
- Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)CompletedNCT02156102
- Natural History Study of Children With Metachromatic LeukodystrophyTerminatedNCT01963650
- Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular DystrophyActive, not recruitingNCT01851447
- EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentCompletedNCT01793090Phase 2
- Studying Childhood-onset Behavioral, Psychiatric, and Developmental DisordersCompletedNCT01778504
- Growth Response in Girls With Turner SyndromeCompletedNCT01734486Phase 4
- Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves' OrbitopathyCompletedNCT01727973Phase 1/2
- Induction of Puberty With 17-beta Estradiol in Girls With Turner SyndromeCompletedNCT01710696Phase 3
- A Social Media Approach to Improve Genetic Risk Communication Phase IStatus unknownNCT01645904
- Non-interventional Study of Patients Using Norditropin® for Growth Hormone Deficiency or Turner SyndromeCompletedNCT01604161
- Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone DeficiencyCompletedNCT01563926Phase 3
- Safety and Efficacy of Long-term Somatropin Treatment in ChildrenCompletedNCT01543867
- Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658CompletedNCT01529944Phase 3
- Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan SyndromeCompletedNCT01529840Phase 3
- Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner SyndromeCompletedNCT01518062Phase 4
- Use of Somatropin in Turner SyndromeCompletedNCT01518036Phase 3
- Brain-Derived Neurotrophic Factor in Obesity and Brain FunctionCompletedNCT01517048
- Special Survey for Long Term ApplicationCompletedNCT01516229
- Inherited Diseases, Caregiving, and Social NetworksCompletedNCT01498263
- A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With SomatropinCompletedNCT01435629
- Bioequivalence of Two Somatropin Products (Norditropin® Versus Genotropin®) in Healthy Adult VolunteersCompletedNCT01401244Phase 1
- Efficacy and Safety of Oral Valproic Acid for Retinitis PigmentosaCompletedNCT01399515Phase 2
- The Role of Family Functioning in Promoting Adaptation in Siblings of Individuals With Duchenne Muscular Dystrophy (DMD)TerminatedNCT01386515
- Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical ProtocolsCompletedNCT01375543
- Cord Blood Transplantation in Severe Aplastic AnemiaCompletedNCT01343953Phase 2
- Usability and Tolerability of the Norditropin NordiFlex® Injection Device in Children Never Previously Treated With Growth HormoneCompletedNCT01327924
- Personalized Genomic ResearchCompletedNCT01294345
- Prenatal Cytogenetic Diagnosis by Array-Based Copy Number AnalysisCompletedNCT01279733
- Saffron Supplementation in Stargardt's DiseaseStatus unknownNCT01278277Phase 1/2